Online citations, reference lists, and bibliographies.
← Back to Search

Single Nucleotide Polymorphisms And The Haplotype In The DEFB1 Gene Are Associated With Atopic Dermatitis In A Korean Population.

Eugene Kim, Jong-eun Lee, J. Namkung, Pyoung-Su Kim, S. Kim, E. Shin, E. Cho, Jun‐Mo Yang
Published 2009 · Biology, Medicine

Save to my Library
Download PDF
Analyze on Scholarcy Visualize in Litmaps
Reduce the time it takes to create your bibliography by a factor of 10 by using the world’s favourite reference manager
Time to take this seriously.
Get Citationsy
BACKGROUND Atopic dermatitis (AD) patients have been recognized to have an increased susceptibility to cutaneous colonization and infection by bacteria, fungi and viruses. OBJECTIVE We wanted to evaluate the associations of single nucleotide polymorphism (SNP) and the haplotype in the defensin (DEFA) and defensin (DEFB) genes, and so we performed genotyping for the SNPs in these genes in both AD patients and normal controls. METHOD We genotyped 27 SNPs from the DEFA 4, 5 and 6 genes and the DEFB1 gene for 1089 case-control samples (631 AD patients and 458 normal controls). We analyzed the SNPs and haplotypes in each gene. RESULT We identified that two SNPs and the haplotype CT in the DEFB1 gene are associated with AD in Koreans. The rs5743399 (-2266T/C) SNP is associated with AD, and especially with the high IgE, extrinsic type, and the rs5743409 (-1241T/G) SNP is associated with AD. On the haplotype analysis of these two SNPs, the haplotype CT is associated with AD, and especially with the allergic, extrinsic type of AD. However, we could not find any significant associations between the SNPs in the three DEFA genes and AD. CONCLUSION We found that the rs5743399 SNP, the rs5743409 SNP and the CT haplotype in the DEFB1 gene were significantly associated with the susceptibility to AD. We also found that rs5743399 polymorphism and the haplotype CT in this gene showed a strong association with the allergic, extrinsic type of AD. These results suggest that the DEFB1 gene has a main effect on the skin inflammation and/or skin responsiveness to any kind of allergic reaction.
This paper references
Direct inactivation of viruses by human granulocyte defensins
K. Daher (1986)
The human β-defensin-1 and α-defensins are encoded by adjacent genes : Two peptide families with differing disulfide topology share a common ancestry
L. Liu (1997)
Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6.
D. Yang (1999)
Expression of mammalian defensin genes
V. Kaiser (2000)
A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.
C. Ober (2000)
Genetic variants of human β-defensin-1 and chronic obstructive pulmonary disease
I. Matsushita (2002)
The Structure of Haplotype Blocks in the Human Genome
S. Gabriel (2002)
SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery.
P. A. Bell (2002)
Chemokines Meet Defensins: the Merging Concepts of Chemoattractants and Antimicrobial Peptides in Host Defense
Manuela Dürr (2002)
Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations.
R. Jurevic (2002)
Differential in vivo cytokine mRNA expression in lesional skin of intrinsic vs. extrinsic atopic dermatitis patients using semiquantitative RT‐PCR
C-W Jeong (2003)
TRANSFAC®: transcriptional regulation, from patterns to profiles
V. Matys (2003)
Estimation and Tests of Haplotype-Environment Interaction when Linkage Phase Is Ambiguous
S.L. Lake (2003)
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.
E. Hollox (2003)
Cytokine Milieu of Atopic Dermatitis, as Compared to Psoriasis, Skin Prevents Induction of Innate Immune Response Genes 1
I. Nomura (2003)
Single-Nucleotide Polymorphisms (SNPs) in Human β-Defensin 1: High-Throughput SNP Assays and Association with Candida Carriage in Type I Diabetics and Nondiabetic Controls
R. Jurevic (2003)
Multipoint linkage disequilibrium mapping approach: Incorporating evidence of linkage and linkage disequilibrium from unlinked region
F. Hsu (2003)
A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children
L. Braida (2004)
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.
C. Carlson (2004)
Immunophenotyping of inflammatory cells in lesional skin of the extrinsic and intrinsic types of atopic dermatitis
Nark-kyoung Rho (2004)
Dendritic cells and the regulation of the allergic immune response
B. N. Lambrecht (2005)
High‐throughput multiplex single‐nucleotide polymorphism analysis for red cell and platelet antigen genotypes
G. Denomme (2005)
Association of defensin β-1 gene polymorphisms with asthma
H. Levy (2005)
Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children
T. Leung (2006)
Association of β-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis
E. Prado-Montes de Oca (2006)
SNPs in human β‐defensin 1 gene (DEFB1): frequencies in a Mexican population and new PCR–RFLPs assays
E. Prado-Montes de Oca (2006)
Innate immune defects in atopic dermatitis.
L. Y. McGirt (2006)
Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population
Q-X Chen (2007)

This paper is referenced by
Endophenotypic Variations of Atopic Dermatitis by Age, Race, and Ethnicity.
T. Nomura (2020)
Childhood atopic dermatitis: current developments, treatment approaches, and future expectations
Pınar Gür Çetinkaya (2019)
Clinical Characteristics and Genetic Variations in Early-Onset Atopic Dermatitis Patients
Beom Jun Kim (2019)
Racial differences in atopic dermatitis.
P. Brunner (2019)
Overview and challenges of current genetic research on allergic diseases in Korean children
M. Sohn (2018)
Atopic dermatitis in diverse racial and ethnic groups—Variations in epidemiology, genetics, clinical presentation and treatment
B. Kaufman (2018)
Overview and challenges of current genetic research on allergic diseases in Korean children
손명현 (2018)
Clinical characteristics and genetic variation in atopic dermatitis patients with and without allergic contact dermatitis
S. Lee (2018)
Differences in Genetic Variations Between Treatable and Recalcitrant Atopic Dermatitis in Korean
M. Jun (2018)
Simultaneous detection of barrier‐ and immune‐related gene variations in patients with atopic dermatitis by reverse blot hybridization assay
N. Yoon (2018)
A lack of association between genetic polymorphisms in beta-defensins and susceptibility of psoriasis in Taiwanese: A case–control study
Yu-Jui Hsieh (2016)
Molecular Genetic of Atopic dermatitis: An Update.
H. Al-Shobaili (2016)
Molecular Mechanisms of Cutaneous Inflammatory Disorder: Atopic Dermatitis
J. Kim (2016)
Pathophysiology of Atopic Dermatitis/Eczema
J. Ring (2016)
In vivo expression of antimicrobial peptides in atopic dermatitis
Maja-Lisa Clausen (2016)
Prediction of the impact of coding missense and nonsense single nucleotide polymorphisms on HD5 and HBD1 antibacterial activity against Escherichia coli
William Farias Porto (2016)
A lack of association between genetic polymorphisms in beta-defensins and susceptibility of psoriasis in Taiwanese : A case e control study
Yu-Jui Hsieh (2016)
The Genetics and Epigenetics of Atopic Dermatitis—Filaggrin and Other Polymorphisms
Y. Liang (2015)
Are Podoplanin Gene Polymorphisms Associated with Atopic Dermatitis in Koreans?
Junghyun Namkung (2015)
Molecular Biology of Atopic Dermatitis
Zhang-lei Mu (2014)
A Fast Method for DEFB1 - 44C/G SNP Genotyping in Brazilian Patients with Periodontitis.
R. Cimões (2014)
Skin Barrier Defects in Atopic Dermatitis
R. Agrawal (2014)
Genetic predispositions to atopic eczema and psoriasis: survey, meta-analyses and comparison
M. Schneider (2013)
Variation in human β‐defensin genes: new insights from a multi‐population study
R. Mehlotra (2013)
Human β‐defensin 1 (DEFB1) allele and genotype frequencies probably impact on ethnic susceptibility to atopic dermatitis
E. Prado Montes de Oca (2013)
Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians
P. Sandrin-Garcia (2012)
Association of filaggrin (FLG) gene polymorphism with canine atopic dermatitis in small breed dogs.
G. Suriyaphol (2011)
Antimicrobial Peptides of Skin and Oral Mucosa
W. Chung (2011)
Mini Review: Novel antimicrobial compounds in the age of increasing bacterial resistance
W. Chung (2011)
Unraveling the Genetic Basis of Asthma and Allergic Diseases
J. Meng (2010)
Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans
Jung-Hyun Namkung (2010)
An update on the genetics of atopic dermatitis: scratching the surface in 2009.
K. Barnes (2010)
See more
Semantic Scholar Logo Some data provided by SemanticScholar